Canonical Allele Identifier: CA2663400062

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227257749-A-AACAAGGTAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227257749_227257750insACAAGGTAAT , CM000664.2:g.227257749_227257750insACAAGGTAAT	GRCh38
NC_000002.11:g.228122465_228122466insACAAGGTAAT , CM000664.1:g.228122465_228122466insACAAGGTAAT	GRCh37
NC_000002.10:g.227830709_227830710insACAAGGTAAT	NCBI36
NG_011591.1:g.98185_98186insACAAGGTAAT , LRG_230:g.98185_98186insACAAGGTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.1029+105_1029+106insACAAGGTAAT (COL4A3) MANE Select	ENSP00000379823.3:n.1029+105_1029+106insACAAGGTAAT
ENST00000396578.7:c.1029+105_1029+106insACAAGGTAAT (COL4A3)	ENSP00000379823.3:n.1029+105_1029+106insACAAGGTAAT
NM_000091.4:c.1029+105_1029+106insACAAGGTAAT , LRG_230t1:c.1029+105_1029+106insACAAGGTAAT (COL4A3)	NP_000082.2:n.1029+105_1029+106insACAAGGTAAT
NR_102371.1:n.1592+1428_1592+1429insATTACCTTGT (MFF-DT)
XM_005246276.2:c.1029+105_1029+106insACAAGGTAAT (COL4A3)	XP_005246333.1:n.1029+105_1029+106insACAAGGTAAT
XM_005246277.2:c.1029+105_1029+106insACAAGGTAAT (COL4A3)	XP_005246334.1:n.1029+105_1029+106insACAAGGTAAT
XM_005246280.2:c.1029+105_1029+106insACAAGGTAAT (COL4A3)	XP_005246337.1:n.1029+105_1029+106insACAAGGTAAT
XM_006712245.2:c.1029+105_1029+106insACAAGGTAAT (COL4A3)	XP_006712308.1:n.1029+105_1029+106insACAAGGTAAT
XM_011510555.1:c.1029+105_1029+106insACAAGGTAAT (COL4A3)	XP_011508857.1:n.1029+105_1029+106insACAAGGTAAT
XM_011510556.1:c.-207+105_-207+106insACAAGGTAAT (COL4A3)	XP_011508858.1:n.-207+105_-207+106insACAAGGTAAT
XR_241280.2:n.1167+105_1167+106insACAAGGTAAT (COL4A3)
XM_005246277.3:c.1029+105_1029+106insACAAGGTAAT (COL4A3)	XP_005246334.1:n.1029+105_1029+106insACAAGGTAAT
XM_005246280.3:c.1029+105_1029+106insACAAGGTAAT (COL4A3)	XP_005246337.1:n.1029+105_1029+106insACAAGGTAAT
XM_006712245.3:c.1029+105_1029+106insACAAGGTAAT (COL4A3)	XP_006712308.1:n.1029+105_1029+106insACAAGGTAAT
XM_011510556.2:c.-207+105_-207+106insACAAGGTAAT (COL4A3)	XP_011508858.1:n.-207+105_-207+106insACAAGGTAAT
XM_017003295.1:c.1029+105_1029+106insACAAGGTAAT (COL4A3)	XP_016858784.1:n.1029+105_1029+106insACAAGGTAAT
XR_001738601.1:n.1167+105_1167+106insACAAGGTAAT (COL4A3)
XR_241280.3:n.1167+105_1167+106insACAAGGTAAT (COL4A3)
NM_000091.5:c.1029+105_1029+106insACAAGGTAAT (COL4A3) MANE Select	NP_000082.2:n.1029+105_1029+106insACAAGGTAAT